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Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis 总被引:1,自引:0,他引:1 下载免费PDF全文
C W Lam K Jain K Y Chan D K Silva Y W Chan L J C Wong 《Journal of clinical pathology》1995,48(5):M285-M288
The clinical presentation and the biochemical and molecular genetic findings are described in a 13 year old Chinese boy with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The diagnosis was initially suspected because of the characteristic clinical features and the strong family history of convulsions. Using polymerase chain reaction—restriction enzyme analysis, the heteroplasmic nt3243 A→G mutation in mtDNA of peripheral blood leucocytes and a muscle sample was demonstrated. The oligosymptomatic relatives were then screened by this method and the degree of heteroplasmy was analysed. This appears to be the first report of a MELAS family in Hong Kong with this described mutation. Molecular genetic techniques are advantageous in the diagnosis of MELAS. 相似文献
23.
W W Wong W J Cochran W J Klish E O Smith L S Lee M L Fiorotto P D Klein 《European journal of clinical nutrition》1988,42(3):233-242
We estimated body fat in 20 normal adults (10 males and 10 females) from 18O- and 2H-dilution spaces and from the equations of Durnin & Womersley and Pollock, Schmidt & Jackson based on skinfold thickness measurements. Differences between methods for body fat estimation were found to be sex-dependent: subsequent analyses indicated significant differences between methods within each sex. Regardless of sex, the highest fat estimates were obtained with the 18O-dilution method, followed by those obtained with the 2H-dilution method or the Durnin & Womersley equation. The lowest fat estimates were obtained using the Pollock, Schmidt & Jackson equation. The 18O-dilution method and the Durnin & Wormersley anthropometric method are both suitable and appropriate for body fat estimation in adults studied under field conditions. 相似文献
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The doubly labelled water method was used to estimate energy expenditure in 20 formula-fed infants (10 aged 1 month and 10 aged 4 months). We then compared the energy expenditure values with energy balance values calculated from energy intake and energy cost of growth. Our purpose was to compare various published equations for calculating CO2 expiration rates (and thus energy expenditure values) from the isotopic data. Those equations in which we used measured values for 18O and 2H isotope dilution spaces and estimated or measured values for insensible water losses yielded energy expenditure values (69.7 +/- 8.4 kcal/kg/d) that agreed most closely with energy balance data (70.3 +/- 11.9 kcal/kg/d). Equations in which we used a constant ratio of 1.03 between the 2H and 18O isotope dilution spaces resulted in energy expenditure values (66.3 +/- 10.2 kcal/kg/d) lower than those predicted by the energy balance data. Data analysis by nonlinear curve fitting compared to logarithmic transformation did not alter the estimates of energy expenditure obtained in these infants. 相似文献
26.
S G Wong 《Journal of the American Optometric Association》1988,59(8):594-597
For a number of years, optometrists have had informal working and referral relationships with many hospitals. Many hospitals were requesting diagnostic and treatment services from community optometrists while many optometrists were also requesting official recognition. With changes in the medical staff standard of the Joint Commission on Accreditation of Hospitals (JCAH)a that allowed independently licensed practitioners to be on staff, a number of optometrists have been requesting clinical privileges and to be on the Medical Staff. Practicing in a hospital can augment one's practice and can allow the optometrist greater opportunities to interact with other professionals and utilize the hospital's diagnostic facilities. 相似文献
27.
Contact angles of substances used for internal tamponade in retinal detachment surgery 总被引:4,自引:0,他引:4
I. M. Fawcett R. L. Williams D. Wong 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》1994,232(7):438-444
In order to ascertain the tamponade effect of air and silicone oil we examined the contact angles subtended by ex vivo human retina, Teflon and Perspex to find a suitable experimental material which would mimic the surface properties of the retina at a three-phase interface. Using the captive bubble technique to measure the contact angle, it was found that air subtended a larger contact angle (38.8°) with the retina than did silicone oil (18.2°). On coating the Perspex surface with protein (PCP), it was observed that the surface properties were modified such that PCP subtended contact angles with air (43.0°) and silicone oil (16.4°) similar to those subtended by ex vivo human retina. Using PCP as an experimental material that mimics ex vivo human retina, spherical chambers were employed in order to examine qualitatively and to quantify the arc of contact obtained with air and silicone oil. It was found that air gave a greater arc of contact for the same percentage fill than silicone oil. 相似文献
28.
Surgical treatment of brain metastases from renal cell carcinoma 总被引:1,自引:0,他引:1
R A Badalament R W Gluck G Y Wong C Gnecco E Kreutzer H W Herr W R Fair J H Galicich 《Urology》1990,36(2):112-117
Between January 1976 and December 1986, 22 patients with renal cell carcinoma underwent surgical resection of brain metastases at Memorial Sloan-Kettering Cancer Center. Ten of the patients had metastases limited to the brain and 12 also had extracranial metastases. Twenty patients received external radiotherapy. Five had craniotomy after failing radiation therapy and 15 had adjuvant radiotherapy. Two patients died within thirty days following craniotomy; the median survival of the remaining 20 patients was 20.9 +/- 6.8 months calculated according to a Weibull survival model. Variables examined in relation to survival included absence or presence of extracranial metastases at time of craniotomy, time interval between nephrectomy and diagnosis of cerebral metastases, neurologic status prior to craniotomy, location of the brain tumor, and patient age. None of the variables was significant at the 10 percent level by the Weibull analysis. However, three favorable prognostic factors, namely metachronous brain metastasis more than one year after nephrectomy, minimal or no neurologic deficit at time of craniotomy, and infratentorial lesions show a trend toward improved survival with p less than 0.20. The data suggest that surgical resection of a single and occasionally multiple brain metastases is warranted in selected patients with renal cell carcinoma. 相似文献
29.
Andrew K. C. Lam Abby Lam Jessie Charm Kwai-mui Wong 《Ophthalmic & physiological optics》2005,25(2):162-167
PURPOSE: This study compared the near phoria measurement using the Bernell muscle balance card with and without prism neutralization, using both trial frame and phoropter correction, and compared with the conventional Maddox rod method. METHODS: Forty young normal Chinese adults had their near phoria measured with trial frame correction using the conventional muscle balance card method (method 1). Any deviation was compensated with a prism bar as an alternative approach (method 2). The conventional Maddox rod method (method 3) was also carried out for comparison. These three methods were repeated with phoropter correction and considered as methods 4, 5 and 6. RESULTS: The phorias obtained from these six methods were not significantly different from each other (repeated measures anova, p > 0.05). More than half of the subjects were exophoric. Although the difference in phoria was not significant, phoria measurement using phoropter correction yielded a greater coefficient of variation. CONCLUSIONS: Near phoria measurement using the muscle balance card conducted with trial frame correction was less variable, and was also more natural and similar to a real reading situation. The use of prism for compensation did not affect the phoria results. Exophoria seems to be more common than esophoria in young Chinese adults. 相似文献
30.